Christine Bole-Feysot

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

Olivier Sterkers, Fanny Mochel, Patrick Nitschke, 2017, American journal of human genetics.

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

Thomas Meitinger, Nathalie Boddaert, Robert Barouki, 2017, American journal of human genetics.

An open-access long oligonucleotide microarray resource for analysis of the human and mouse transcriptomes

Tom C. Freeman, Philippe Dessen, Jean-Marie Rouillard, 2006, Nucleic acids research.

A human immunodeficiency caused by mutations in the PIK3R1 gene.

Patrick Nitschke, Felipe Suarez, Sven Kracker, 2015, The Journal of clinical investigation.

A human immunodeficiency caused by mutations in the PIK3R1 gene.

Patrick Nitschke, Felipe Suarez, Sven Kracker, 2014, The Journal of clinical investigation.

Targeted therapy in patients with PIK3CA-related overgrowth syndrome

Laureline Berteloot, Nicolas Grenier, Nathalie Boddaert, 2018, Nature.